Canonical Allele Identifier: CA2589274503
Gene: AMELY HGNC NCBI

Linked Data

gnomAD v3: Y-6866644-T-C
gnomAD v4: Y-6866644-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6866644T>C , CM000686.2:g.6866644T>C GRCh38
NC_000024.9:g.6734685T>C , CM000686.1:g.6734685T>C GRCh37
NC_000024.8:g.6794685T>C NCBI36
NG_008011.1:g.12384A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000651267.2:c.574-566A>G MANE Select ENSP00000498344.1:n.574-566A>G
ENST00000215479.10:c.574-566A>G ENSP00000215479.5:n.574-566A>G
ENST00000651267.1:c.574-566A>G ENSP00000498344.1:n.574-566A>G
ENST00000215479.9:c.574-566A>G ENSP00000215479.5:n.574-566A>G
ENST00000383036.1:c.616-566A>G ENSP00000372505.1:n.616-566A>G
NM_001143.1:c.574-566A>G NP_001134.1:n.574-566A>G
XM_011531472.1:c.616-566A>G XP_011529774.1:n.616-566A>G
NM_001364814.1:c.616-566A>G NP_001351743.1:n.616-566A>G
NM_001143.2:c.574-566A>G MANE Select NP_001134.1:n.574-566A>G
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